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Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis

OBJECTIVE: Disorders of sexual development (DSD) are a heterogeneous group of genital defects affecting chromosomal, gonadal and anatomical sex. 46,XY DSD is a subset of DSD which covers a wide range of phenotypes in which 46,XY gonadal dysgenesis (GD) is the most severe form. In this study, we repo...

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Detalles Bibliográficos
Autores principales:	Rjiba, Khouloud, Slimani, Wafa, Gaddas, Meriem, Hassine, Ikbel Hadj, Jelloul, Afef, Khelifa, Hela Ben, El Amri, Fethi, Zaouali, Monia, Mcelreavey, Kenneth, Saad, Ali, Mougou-Zerelli, Soumaya
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Galenos Publishing 2023
Materias:	Original Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9976160/ https://www.ncbi.nlm.nih.gov/pubmed/35984215 http://dx.doi.org/10.4274/jcrpe.galenos.2022.2022-3-15

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